Melhem-Fahl syndrome

Definition

A rare dysostosis characterized by the presence of fifteen dorsal vertebrae and rib pairs with a normal complement of lumbar vertebrae. Patients may also present with Hirschsprung's disease, membraneous imperforate anus with perineal fistula, cryptorchidism, high-arched palate, simian crease and absent nails. There have been no further descriptions in the literature since 1985.